Sudhisha Dubey

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OBJECTIVE To determine the prevalence of triple X females among patients with premature ovarian failure and to describe the clinical features of the syndrome. DESIGN Case report. SETTING Tertiary care hospital. PATIENT(S) Fifty-two consecutive patients with secondary amenorrhea due to premature ovarian failure and no clinical stigmata of Turner's(More)
Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients from(More)
Methods: NAT2 genotyping of 201 subjects was carried out by PCR-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing. Acetylation phenotypes were predicted from NAT2 genotypes. The association of au]|NAT2 genotypes with plasma isoniazid concentrations was determined by measuring the plasma levels in tuberculosis patients at(More)
OBJECTIVE To evaluate serum leptin levels in obese Indian children and its correlation to anthropometric and biochemical parameters. DESIGN Cohort study. SETTING Referral tertiary hospital. METHODOLOGY Leptin levels were measured in 36 children (26 boys, age 1.5 to 15 years) and 37 adults (21 men, age 25 to 69 years) with obesity and 29 normal weight(More)
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a novel 9-bp insertion in CYP21A2 gene and its structural and functional(More)
BACKGROUND & OBJECTIVES Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most(More)
Chorionic villus sampling (CVS) offers rapid prenatal diagnosis of chromosomal disorders. We evaluated four methods for chromosomal analysis of chorionic villi (three based on direct preparations and one on long-term culture) in order to define a method which would provide good quality metaphases in sufficient numbers. The direct culturing method using(More)
BACKGROUND Prenatal karyotyping using foetal blood samples obtained by cordocentesis is a useful method of detecting abnormal chromosomes in the foetus. METHODS Cordocentesis was performed in 187 cases for prenatal karyotyping between January 1995 and September 2000. Pregnant women were between 18 and 38 weeks of gestation and their ages ranged from 18 to(More)
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